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Items: 1 to 20 of 128

1.

Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.

Díaz-Manera J, Querol L, Clarimón J, Yagüe S, Illa I.

Clin Neurophysiol. 2011 Dec;122(12):2537-9. doi: 10.1016/j.clinph.2011.04.025. Epub 2011 Jun 2. No abstract available.

PMID:
21640645
2.

Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.

Lim BC, Kim GB, Bae EJ, Noh CI, Hwang H, Kim KJ, Hwang YS, Ko TS, Chae JH.

J Child Neurol. 2010 Apr;25(4):490-3. doi: 10.1177/0883073809357937.

PMID:
20382953
3.

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.

Tristani-Firouzi M, Etheridge SP.

Pflugers Arch. 2010 Jul;460(2):289-94. doi: 10.1007/s00424-010-0820-6. Epub 2010 Mar 21. Review.

PMID:
20306271
4.

Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.

Modoni A, Bianchi ML, Vitulano N, Pagliarani S, Perna F, Sanna T, Rizzo V, Silvestri G.

Cardiology. 2011;120(4):200-3. doi: 10.1159/000335529. Epub 2012 Jan 26.

PMID:
22286118
5.

Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome.

Rajakulendran S, Tan SV, Hanna MG.

Pract Neurol. 2010 Aug;10(4):227-31. doi: 10.1136/jnnp.2010.217794. Review.

PMID:
20647529
6.

Electrophysiological mechanisms of ventricular arrhythmias in relation to Andersen-Tawil syndrome under conditions of reduced IK1: a simulation study.

Sung RJ, Wu SN, Wu JS, Chang HD, Luo CH.

Am J Physiol Heart Circ Physiol. 2006 Dec;291(6):H2597-605. Epub 2006 Jul 28.

7.

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP.

Neurology. 2014 Mar 25;82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26.

PMID:
24574546
8.

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.

Barajas-Martinez H, Hu D, Ontiveros G, Caceres G, Desai M, Burashnikov E, Scaglione J, Antzelevitch C.

Circ Cardiovasc Genet. 2011 Feb;4(1):51-7. doi: 10.1161/CIRCGENETICS.110.957696. Epub 2010 Dec 10.

9.

Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.

Liu XL, Huang XJ, Luan XH, Zhou HY, Wang T, Wang JY, Shen JY, Chen SD, Tang HD, Cao L.

J Neurol Sci. 2015 May 15;352(1-2):105-6. doi: 10.1016/j.jns.2015.02.027. Epub 2015 Feb 20. No abstract available.

PMID:
25847018
10.

IK1: the long and the short QT of it.

Gross GJ.

Heart Rhythm. 2006 Mar;3(3):336-8. No abstract available.

PMID:
16500307
11.

Sudden cardiac death in Andersen-Tawil syndrome.

Peters S, Schulze-Bahr E, Etheridge SP, Tristani-Firouzi M.

Europace. 2007 Mar;9(3):162-6. Epub 2007 Feb 1.

PMID:
17272325
12.

Management and treatment of Andersen-Tawil syndrome (ATS).

Sansone V, Tawil R.

Neurotherapeutics. 2007 Apr;4(2):233-7. Review.

PMID:
17395133
13.
14.

Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome.

Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P.

Ann Noninvasive Electrocardiol. 2013 Sep;18(5):471-8. doi: 10.1111/anec.12074.

PMID:
24047492
15.

Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome.

Kim JB, Chung KW.

Pediatr Neurol. 2009 Dec;41(6):464-6. doi: 10.1016/j.pediatrneurol.2009.07.010.

PMID:
19931173
16.

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P, Szczałuba K, Lee HY, Quinn E, Ploski R, Kaminska A, Ptáček LJ.

Muscle Nerve. 2015 Feb;51(2):192-6. doi: 10.1002/mus.24293. Epub 2014 Nov 19.

PMID:
24861851
17.

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.

Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T, Tsuji K, Ono S, Nishio Y, Shimizu W, Inoue T, Murakami T, Tsuboi N, Yamanouchi H, Ushinohama H, Nakamura Y, Yoshinaga M, Horigome H, Aizawa Y, Kita T, Horie M.

Hum Mutat. 2007 Feb;28(2):208.

PMID:
17221872
18.

Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.

Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quitania L, Kramer JH, Miller BL, Fu YH, Ptácek LJ.

Am J Med Genet A. 2006 Feb 15;140(4):312-21.

PMID:
16419128
19.

[QTU pattern in a patient with the Anderson-Tawil syndrome].

Ciurzyński M, Bienias P, Kostera-Pruszczyk A, Pruszczyk P.

Kardiol Pol. 2010 Mar;68(3):339-41; discussion 342. Polish.

20.

Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.

Donaldson MR, Yoon G, Fu YH, Ptacek LJ.

Ann Med. 2004;36 Suppl 1:92-7. Review.

PMID:
15176430

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